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Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.

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Title: Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.
Authors: Khoodoruth, Mohamed Adil Shah (AUTHOR), Chut-kai Khoodoruth, Widaad Nuzhah (AUTHOR), Alabdulla, Majid (AUTHOR), Khan, Yasser Saeed (AUTHOR)
Source: Journal of Genetic Psychology. Jul/Aug2025, Vol. 186 Issue 4, p317-329. 13p.
Subjects: Autism spectrum disorders, Comparative genomic hybridization, Genetic testing, Individualized medicine, Genetic disorder diagnosis, Medical research, Neural development, Chromosomal rearrangement
Geographic Terms: Qatar
Abstract: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with rising prevalence. Traditional diagnostic approaches often lack biological markers, making precision in diagnosis challenging. This study explores the role of array Comparative Genomic Hybridization (aCGH) in improving diagnostic accuracy for ASD. Five clinical vignettes of children diagnosed with ASD via DSM-5 or ADOS-2 were evaluated at a child and adolescent psychiatry clinic. Genome-wide oligonucleotide aCGH analysis was conducted using the Human Genome CGH Microarray kit (OGT), containing approximately 180,000 probes with 30–37 kb spacing based on the GRCh37 build. Fragile X syndrome was excluded using the Asuragen Amplidex PCR/CE FMR1 kit. The case series included boys aged 8–11 from diverse ethnic backgrounds (Asian, African, and Qatari), all presenting with varying degrees of ASD. Genetic analyses revealed significant chromosomal changes affecting eight genes, SHOX, HNF1B, COH1, AHNAK, DOCK8, TIAM1, TBL1XR1, and ALKBH8, highlighting diverse genetic contributions to ASD. These findings encompassed both chromosomal gains and losses, as well as variants of uncertain significance (VUS). The aCGH analyses provided valuable genetic insights, refining the diagnostic process and informing personalized management strategies for ASD. This suggests that aCGH is a useful tool in identifying clinically relevant genetic variations, particularly in settings with limited resources, where other diagnostic modalities may be less accessible. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Genetic Psychology is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.
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  Data: <searchLink fieldCode="DE" term="%22Qatar%22">Qatar</searchLink>
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  Data: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with rising prevalence. Traditional diagnostic approaches often lack biological markers, making precision in diagnosis challenging. This study explores the role of array Comparative Genomic Hybridization (aCGH) in improving diagnostic accuracy for ASD. Five clinical vignettes of children diagnosed with ASD via DSM-5 or ADOS-2 were evaluated at a child and adolescent psychiatry clinic. Genome-wide oligonucleotide aCGH analysis was conducted using the Human Genome CGH Microarray kit (OGT), containing approximately 180,000 probes with 30–37 kb spacing based on the GRCh37 build. Fragile X syndrome was excluded using the Asuragen Amplidex PCR/CE FMR1 kit. The case series included boys aged 8–11 from diverse ethnic backgrounds (Asian, African, and Qatari), all presenting with varying degrees of ASD. Genetic analyses revealed significant chromosomal changes affecting eight genes, SHOX, HNF1B, COH1, AHNAK, DOCK8, TIAM1, TBL1XR1, and ALKBH8, highlighting diverse genetic contributions to ASD. These findings encompassed both chromosomal gains and losses, as well as variants of uncertain significance (VUS). The aCGH analyses provided valuable genetic insights, refining the diagnostic process and informing personalized management strategies for ASD. This suggests that aCGH is a useful tool in identifying clinically relevant genetic variations, particularly in settings with limited resources, where other diagnostic modalities may be less accessible. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Journal of Genetic Psychology is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1080/00221325.2025.2454309
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 13
        StartPage: 317
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      – SubjectFull: Autism spectrum disorders
        Type: general
      – SubjectFull: Comparative genomic hybridization
        Type: general
      – SubjectFull: Genetic testing
        Type: general
      – SubjectFull: Individualized medicine
        Type: general
      – SubjectFull: Genetic disorder diagnosis
        Type: general
      – SubjectFull: Medical research
        Type: general
      – SubjectFull: Neural development
        Type: general
      – SubjectFull: Chromosomal rearrangement
        Type: general
      – SubjectFull: Qatar
        Type: general
    Titles:
      – TitleFull: Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.
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          Name:
            NameFull: Khoodoruth, Mohamed Adil Shah
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            NameFull: Chut-kai Khoodoruth, Widaad Nuzhah
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            NameFull: Alabdulla, Majid
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            NameFull: Khan, Yasser Saeed
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            – D: 01
              M: 07
              Text: Jul/Aug2025
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              Y: 2025
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              Value: 186
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            – TitleFull: Journal of Genetic Psychology
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